"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128453	NM_001174150.2(ARL13B):c.105C>T (p.Thr35=)	ARL13B	Single nucleotide variant (synonymous variant +3 more)	Joubert syndrome 8 +1 more	GBenign/Likely benign
Select item 128452	NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser)	ARL13B (T348S +3 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 8 +1 more	GBenign